Introduction: Epidemiological data relating to the prevalence and incidence of Fabry disease (FD) and other Lysosomal Storage diseases (LSDs) are largely underestimated and not yet well known. Distribution of the disease varies according to geographical area and to ethnic origin. Heterozygous females are also at risk of contracting severe and multi-symptomatic forms of FD.
Aim: To demonstrate the results obtained in outpatient surgeries situated in an area comprising 319,340 inhabitants.
Methods: Out of a total of 2710 nephrologist visits, 150 patients with suspected FD (73 undergoing dialysis and 77 conservative management) were selected. The relatives of one female patient on dialysis who had tested positive were investigated and a further 11 patients thus identified (total: 4 males and 7 females) within a micro-area of 21,822 inhabitants, i.e. a prevalence rate of one positive case every 1,818 inhabitants. These data relate to the first 18 months of screening.
Conclusions: In the field of nephrology, patients with high levels of proteinuria or microalbuminuria (150-200 mg/day) should be screened for FD, particularly in areas with a high incidence and/or prevalence of kidney disease. Once positive patients of both sexes have been identified, they should immediately be referred for cardiologic and neurological assessment.
Key words: Fabry, familiar heritage, rare disease